Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893631(A;A)
Make rs104893631(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position73946888
GeneDGUOK
is asnp
is mentioned by
dbSNPrs104893631
ebirs104893631
HLIrs104893631
Exacrs104893631
Varsomers104893631
Maprs104893631
PheGenIrs104893631
hapmaprs104893631
1000 genomesrs104893631
hgdprs104893631
ensemblrs104893631
gopubmedrs104893631
geneviewrs104893631
scholarrs104893631
googlers104893631
pharmgkbrs104893631
gwascentralrs104893631
openSNPrs104893631
23andMers104893631
23andMe allrs104893631
SNP Nexus

SNPshotrs104893631
SNPdbers104893631
MSV3drs104893631
GWAS Ctlgrs104893631
Merged fromRs28936406
Max Magnitude0
OMIM601465
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893631(A;A)
Alt rs104893631(A;A)
Reference rs104893631(G;G)
Significance Pathogenic
Disease Mitochondrial DNA-depletion syndrome 3
Variation info
Gene DGUOK
CLNDBN Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed 0
HGVS NC_000002.11:g.74174015G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008635.3,